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Article

Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

Clinical genetics - 1 Mar 2017

Park H J, Jang H, Kim J H, Lee J H, Shin H Y, Kim S M, Park K D, Yim S-V, Lee J H, Choi Y-C

Abstract excerpt

Inherited muscular disorders (IMDs) are clinically and genetically heterogeneous genetic disorders. We investigated the mutational spectrum and genotype-phenotype correlations in Korean patients with IMD. We developed a targeted panel of 69 known IMD genes and recruited a total of 209 Korean patients with IMD. Targeted capture sequencing identified 994 different variants. Among them, 98 variants were classified...

Topics

Adult
Female
Genetic Association Studies
Genetic Heterogeneity
High-Throughput Nucleotide Sequencing
Humans
Male
Muscular Diseases
Mutation
Pedigree
Republic of Korea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27363342
DOI: 10.1111/cge.12826

Genes

CAPN3
DMD
DYSF
GNE
LMNA
RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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